Associated Papers
Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.
Liu Z et al.
Cardiology in the Young, 2026
Lztr1 deficiency contributes to the pathogenesis of dilated cardiomyopathy via RAP1/PI3K/AKT-mediated myocardial Injury.
Yang L et al.
International Journal of Biological Macromolecules, 2025
Structural basis for LZTR1 recognition of RAS GTPases for degradation.
Dharmaiah S et al.
Science (new York, N.y.), 2025
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA et al.
American Journal of Human Genetics, 2024
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 2024
Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.
Knauer C et al.
Molecular Therapy. Nucleic Acids, 2024
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM et al.
Bmc Medical Genomics, 2022
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N et al.
The Application of Clinical Genetics, 2022
Structural Model for Recruitment of RIT1 to the LZTR1 E3 Ligase: Evidences from an Integrated Computational Approach.
Paladino A et al.
Journal of Chemical Information and Modeling, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT et al.
Clinical Genetics, 2019
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M et al.
Human Molecular Genetics, 2019
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016